chr15-43613234-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_153700.2(STRC):c.2481-3C>A variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 2/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_153700.2 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 1AN: 52310Hom.: 0 Cov.: 7 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 263840Hom.: 0 Cov.: 5 AF XY: 0.00 AC XY: 0AN XY: 143552
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000191 AC: 1AN: 52310Hom.: 0 Cov.: 7 AF XY: 0.00 AC XY: 0AN XY: 24548
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2481-3C>A variant in STRC has not been previously reported in individuals with hearing loss. Data from large population studies are insufficient to asses s the frequency of this variant in the general population. This variant is loca ted in the 3' splice region. Computational tools do not suggest an impact to spl icing. However, this information is not predictive enough to rule out pathogenic ity. In summary, the clinical significance of the c.2481-3C>A variant is uncerta in. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at